view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRG6_chr6_142297007_142451261 | 142338017 | G | GTTTTTTT others(31): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 110 | 0.0091 | 38 | c.103 others(57): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRG7_chr3_100604601_100700479 | 100605908 | C | CTCTTTCT others(31): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 NA18965.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0177 a0001c0001t0001g0178 |
3 | 283 | 0.0106 | 38 | c.-39 others(49): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 3692 | chr3 | TogoVar | |||||||
ADGRG7_chr3_100604601_100700479 | 100605923 | T | TCTTTCTT others(31): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 334 | 0.0030 | 38 | c.-39 others(49): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 3677 | chr3 | TogoVar | |||||||
ADGRV1_chr5_90553797_91169437 | 91035861 | T | TAAAATAT others(31): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 47 | 0.0213 | 38 | c.181 others(61): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | chr5 | TogoVar | |||||||
ADGRV1_chr5_90553797_91169437 | 91035861 | T | TATAATAT others(31): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0027 | a0027c0084 | a0027c0084t0001 | a0027c0084t0001g0099 | 1 | 47 | 0.0213 | 38 | c.181 others(61): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | chr5 | TogoVar | |||||||
ADGRV1_chr5_90553797_91169437 | 91035861 | T | TATATAAT others(31): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 47 | 0.0213 | 38 | c.181 others(61): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | chr5 | TogoVar | |||||||
ADISSP_chr20_3748508_3772753 | 3771833 | C | CTTTGGGA others(31): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 444 | 0.0023 | 38 | c.-42 others(49): Show |
ADISSP | ENSG00000101220.18 | transcript | ENST00000379772.4 | protein_coding | 4081 | chr20 | TogoVar | |||||||
ADK_chr10_74146221_74714290 | 74188344 | T | TTTTAATG others(31): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG02145.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0176 others(11): Show |
14 | 198 | 0.0707 | 38 | c.66- others(55): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74274732 | G | GTATATAT others(31): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 77 | 0.0130 | 38 | c.195 others(57): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74274732 | G | GTGTATAT others(31): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 77 | 0.0130 | 38 | c.195 others(57): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADRA1D_chr20_4215630_4254287 | 4231038 | T | TTCTTTCT others(31): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0343 | 1 | 311 | 0.0032 | 38 | c.111 others(57): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADRA1D_chr20_4215630_4254287 | 4231064 | T | TTCTTTCT others(31): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 323 | 0.0031 | 38 | c.111 others(57): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADSS1_chr14_104719229_104752310 | 104746143 | G | GCCCTGGA others(31): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 400 | 0.0025 | 38 | c.117 others(53): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244435553 | T | TACCTCTG others(31): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00597.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(45): Show |
65 | 406 | 0.1601 | 38 | c.355 others(55): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
ADSS2_chr1_244403494_244456909 | 244444514 | C | CAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 74 | 0.0135 | 38 | c.184 others(55): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
AFAP1L2_chr10_114289824_114409502 | 114327147 | T | TTATATAT others(31): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02615.hp2 NA18969.hp2 others(2): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0094 a0001c0002t0002g0101 a0001c0003t0002g0046 others(2): Show |
5 | 43 | 0.1163 | 38 | c.316 others(55): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 4/18 | chr10 | TogoVar | |||||||
AFAP1L2_chr10_114289824_114409502 | 114327147 | T | TTATATTT others(31): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0011 | a0011c0018 | a0011c0018t0002 | a0011c0018t0002g0194 | 1 | 39 | 0.0256 | 38 | c.316 others(55): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 4/18 | chr10 | TogoVar | |||||||
AFF1_chr4_86930011_87146039 | 87022549 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0240 | 1 | 288 | 0.0035 | 38 | c.39- others(55): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581228 | G | GTATACGT others(31): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0040a0001c0002t0051 | a0001c0001t0040g0097 a0001c0002t0051g0132 |
2 | 166 | 0.0120 | 38 | c.48- others(55): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148704440 | A | AGATATAT others(31): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02055.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(10): Show | a0001c0001t0004g0111 a0001c0001t0005g0062 a0001c0001t0009g0112 others(13): Show |
16 | 160 | 0.1000 | 38 | c.104 others(59): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | chrX | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 99648917 | A | ACACACAC others(31): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 19 | 0.0526 | 38 | c.118 others(55): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235728326 | T | TGTGTGTG others(31): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0016 | a0001c0016t0007 | a0001c0016t0007g0089 | 1 | 95 | 0.0105 | 38 | c.310 others(57): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGA_chr4_177425774_177447437 | 177435784 | G | GCGTGCAC others(31): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 440 | 0.0023 | 38 | c.698 others(53): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
AGBL1_chr15_86074871_86921156 | 86286735 | G | GTGTATAT others(31): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 HG03834.hp1 others(1): Show |
a0001a0005 | a0001c0002a0001c0015a0001c0057others(1): Show | a0001c0002t0011a0001c0015t0003a0001c0057t0001others(1): Show | a0001c0002t0011g0005 a0001c0015t0003g0099 a0001c0057t0001g0067 others(1): Show |
4 | 75 | 0.0533 | 38 | c.222 others(57): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86286735 | G | GTGTGTAT others(31): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0119 | 1 | 72 | 0.0139 | 38 | c.222 others(57): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86286735 | G | GTGTGTGT others(31): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0106 | 1 | 72 | 0.0139 | 38 | c.222 others(57): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86735653 | G | GATATATA others(31): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19043.hp2 |
a0004a0022 | a0004c0020a0022c0027 | a0004c0020t0012a0022c0027t0032 | a0004c0020t0012g0073 a0022c0027t0032g0116 |
2 | 91 | 0.0220 | 38 | c.315 others(59): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 8 | 0.1250 | 38 | c.848 others(53): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0090 | 1 | 8 | 0.1250 | 38 | c.848 others(53): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG04199.hp2 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0108 a0002c0002t0002g0117 |
2 | 9 | 0.2222 | 38 | c.848 others(53): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18993.hp1 NA19011.hp1 others(1): Show |
a0002 | a0002c0002a0002c0017 | a0002c0002t0002a0002c0017t0002 | a0002c0002t0002g0074 a0002c0002t0002g0088 a0002c0002t0002g0120 others(1): Show |
4 | 11 | 0.3636 | 38 | c.848 others(53): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0098 a0002c0002t0002g0103 |
2 | 9 | 0.2222 | 38 | c.848 others(53): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL3_chr7_134981508_135140778 | 135026244 | A | ATTATTTT others(31): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG01070.hp2 others(42): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0077 a0001c0001t0002g0017 a0001c0001t0002g0067 others(42): Show |
45 | 186 | 0.2419 | 38 | c.419 others(55): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGK_chr7_141546410_141660244 | 141602173 | T | TTGTGTGT others(31): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 100 | 0.0100 | 38 | c.297 others(53): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGMAT_chr1_15566699_15590051 | 15581569 | T | TAAAAAAA others(31): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0195 | 1 | 388 | 0.0026 | 38 | c.476 others(55): Show |
AGMAT | ENSG00000116771.6 | transcript | ENST00000375826.4 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354314 | G | GTGTATAC others(31): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01106.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0038 others(13): Show |
16 | 164 | 0.0976 | 38 | c.126 others(59): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354473 | C | CGTGTGTG others(31): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0012 | 1 | 167 | 0.0060 | 38 | c.126 others(59): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15432369 | C | CACACACA others(31): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0016 | a0016c0022 | a0016c0022t0004 | a0016c0022t0004g0020 | 1 | 143 | 0.0070 | 38 | c.410 others(55): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15432369 | C | CACACATA others(31): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0104 a0001c0001t0001g0196 |
3 | 145 | 0.0207 | 38 | c.410 others(55): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15459591 | A | ATGTGTGT others(31): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 168 | 0.0060 | 38 | c.410 others(57): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140551634 | A | AGATGGGT others(31): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(88): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(36): Show | a0001c0002t0002g0053 a0001c0002t0002g0102 a0001c0002t0002g0119 others(88): Show |
91 | 127 | 0.7165 | 38 | c.127 others(55): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 10/18 | chr8 | TogoVar | |||||||
AGO4_chr1_35803016_35862890 | 35818658 | A | AAAGAAAG others(31): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 | 1 | 73 | 0.0137 | 38 | c.185 others(55): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177450963 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03195.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0025a0001c0002t0004a0001c0003t0005 | a0001c0001t0025g0253 a0001c0001t0025g0254 a0001c0002t0004g0011 others(1): Show |
4 | 243 | 0.0165 | 38 | c.870 others(55): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1030459 | A | ATGTGTGT others(31): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0166 | 1 | 208 | 0.0048 | 38 | c.464 others(55): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129337310 | A | ATAGTTTA others(31): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 290 | 0.0034 | 38 | c.364 others(57): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129365628 | G | GTATATAT others(31): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02273.hp2 HG02293.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0002g0014 others(5): Show |
8 | 151 | 0.0530 | 38 | c.364 others(57): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318238 | C | CCACCCTG others(31): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02698.hp2 NA19043.hp2 |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0040a0002c0002t0006a0007c0007t0035 | a0001c0001t0040g0055 a0002c0002t0006g0020 a0007c0007t0035g0228 |
3 | 250 | 0.0120 | 38 | c.-35 others(49): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3475 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03492.hp1 HG03688.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0006a0003c0004t0004 | a0002c0002t0006g0020 a0003c0004t0004g0169 a0003c0004t0004g0206 |
3 | 105 | 0.0286 | 38 | c.-10 others(55): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02080.hp1 HG03017.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0003a0002c0002t0001a0002c0002t0006others(2): Show | a0001c0001t0003g0213 a0002c0002t0001g0146 a0002c0002t0006g0144 others(3): Show |
6 | 108 | 0.0556 | 38 | c.-10 others(55): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18962.hp1 |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0021 | a0002c0002t0001g0216 a0006c0006t0021g0246 |
2 | 104 | 0.0192 | 38 | c.-10 others(55): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |